rs12196860
This is a intron variant variant in the COL21A1 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association study of atypical psychosisAssociationN=929Tetsufumi Kanazawa et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A GWAS of 47 Japanese atypical psychosis patients and 882 controls identified suggestive associations with CHN2/CPVL (rs245914, P=1.6×10⁻⁷), COL21A1 (rs12196860, P=2.45×10⁻⁷), and PYGL/TRIM9 (rs1959536, P=7.73×10⁻⁷), though none reached genome-wide significance. Gene-based analysis revealed significant genetic overlap with schizophrenia (P=0.014) but not bipolar disorder, suggesting atypical psychosis shares greater genetic architecture with schizophrenia.
About COL21A1
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
View all COL21A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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